ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.286C>A (p.Arg96Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808934 SCV000949067 uncertain significance Charcot-Marie-Tooth disease type 2F 2018-08-07 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 96 of the HSPB1 protein (p.Arg96Ser). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and serine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with HSPB1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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